Canonical Allele Identifier: CA2610497723
Gene: ABCC2 HGNC NCBI

Linked Data

gnomAD v4: 10-99844365-G-GC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99844366dup , CM000672.2:g.99844366dup GRCh38
NC_000010.10:g.101604123dup , CM000672.1:g.101604123dup GRCh37
NC_000010.9:g.101594113dup NCBI36
NG_011798.1:g.66661dup
NG_011798.2:g.66769dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3888dup MANE Select ENSP00000497274.1:p.Lys1297GlnfsTer7
ENST00000649459.1:n.236dup
ENST00000370449.8:c.3888dup ENSP00000359478.4:p.Lys1297GlnfsTer7
NM_000392.4:c.3888dup NP_000383.1:p.Lys1297GlnfsTer7
XM_006717630.2:c.3192dup XP_006717693.1:p.Lys1065GlnfsTer7
XR_945604.1:n.4077dup
XR_945605.1:n.3952dup
NM_000392.5:c.3888dup MANE Select NP_000383.2:p.Lys1297GlnfsTer7
XM_006717630.3:c.3192dup XP_006717693.1:p.Lys1065GlnfsTer7
XR_945604.3:n.4131dup
XR_945605.3:n.4004dup
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